Literature DB >> 9375917

Dominant inheritance of Kabuki make-up syndrome.

M Tsukahara1, Y Kuroki, K Imaizumi, Y Miyazawa, K Matsuo.   

Abstract

We report on a total of 4 individuals in 2 families with Kabuki make-up syndrome. In family 1, the proposita, a 2 4/12-year-old girl and her mother had typical Kabuki make-up syndrome. The proposita also had early breast development. In family 2, the proposita, a 6-month-old girl and her mother had typical Kabuki make-up syndrome. The proposita died at age 6 months. Analysis of 2 families indicates that the condition is an autosomal dominant inheritance with variable expressivity.

Entities:  

Mesh:

Year:  1997        PMID: 9375917

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.

Authors:  Nancy Mizue Kokitsu-Nakata; Aline Lourenço Petrin; Jason Paul Heard; Siulan Vendramini-Pittoli; Laura E Henkle; Daniela Vera Cruz dos Santos; Jeffrey Clark Murray; Antonio Richieri-Costa
Journal:  Am J Med Genet A       Date:  2012-06-27       Impact factor: 2.802

Review 2.  Reprogramming of the epigenome in neurodevelopmental disorders.

Authors:  Khadija D Wilson; Elizabeth G Porter; Benjamin A Garcia
Journal:  Crit Rev Biochem Mol Biol       Date:  2021-10-02       Impact factor: 8.697

  2 in total

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